title: Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
authors.affiliation: Cattedra di Genetica Medica, Università di Parma, Italy.
authors.forename: T M
authors.initials: TM
authors.lastname: Neri
authors.forename: P
authors.initials: P
authors.lastname: Zanelli
authors.forename: G
authors.initials: G
authors.lastname: De Palma
authors.forename: M
authors.initials: M
authors.lastname: Savi
authors.forename: S
authors.initials: S
authors.lastname: Rossetti
authors.forename: A E
authors.initials: AE
authors.lastname: Turco
authors.forename: G F
authors.initials: GF
authors.lastname: Pignatti
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: M
authors.initials: M
authors.lastname: Bruttini
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: A
authors.initials: A
authors.lastname: Trivelli
authors.forename: A R
authors.initials: AR
authors.lastname: Pinciaroli
authors.forename: M
authors.initials: M
authors.lastname: Ragaiolo
authors.forename: G F
authors.initials: GF
authors.lastname: Rizzoni
authors.forename: M
authors.initials: M
authors.lastname: De Marchi
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002648:Child; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome / Q000235:genetics*
chemical_list: D003094:Collagen; D004247:DNA